Results 131 to 140 of about 13,979 (223)

Homozygosity for a Clinically Significant <i>GALC</i> Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling. [PDF]

Int J Neonatal Screen
Schecter DR, Donnelly C, White A, Raynes H, Heller G, Rajan D, Saavedra-Matiz CA, Orsini J, Boelens JJ, Matern D, Ganesh J.   +10 more
europepmc   +1 more source

Design of a Pediatric Low Motor Function Item Battery in leukodystrophies. [PDF]

Mol Genet Metab
Gavazzi F, Woidill S, Sevagamoorthy A, Jawad AF, D'Aiello R, Bradford J, Lerner M, Hong P, White A, Tashnim Z, Cusack SV, Glanzman AM, Harrington A, Waldman AT, Vanderver A, Adang LA.   +15 more
europepmc   +1 more source

When exome analysis is the key for your patient with cognitive decline: a case report. [PDF]

Dement Neuropsychol
Mendes AA, da Silva IF, Uchoa DS, de Oliveira IC, de Freitas JL, Rocha MSG, Brucki SMD.   +6 more
europepmc   +1 more source

Developmental Delay and Macrocephaly Unraveling a Leukodystrophy: A Case Report. [PDF]

Cureus
Potru M, Pandey A, Rawat J, Shekhar P, Khandelwal K.   +4 more
europepmc   +1 more source

Alpha-like subunits of multisubunit RNA polymerases: insights into structure, function, and disease. [PDF]

RNA Biol
Onuoha OC, Belkevich AE, Palumbo RJ, Knutson BA.   +3 more
europepmc   +1 more source

Magnetic resonance imaging in leukodystrophies: characteristic patterns and diagnostic relevance. [PDF]

Arq Neuropsiquiatr
Ruffini ML, Pereira DA, Helmer RS, Souza AM, Lima BS, Baccarin G, Yamada GK, Borella LFM, Turci RD, Duarte JÁ, Reis F.   +10 more
europepmc   +1 more source

Juvenile Metachromatic Leukodystrophy in a Seven-Year-Old Child With a Familial History: A Case Report Suggesting Saposin B Deficiency. [PDF]

Cureus
Hassan AO, Arrab R, Benchchehab Y, Al Ammari I, Dini N.   +4 more
europepmc   +1 more source

Pathology of leukodystrophies in childhood

Brain and Development, 1987
openaire   +2 more sources

Leukodystrophies

, 2008
Frank Gaillard, Rohit Sharma, Tariq Walizai   +2 more
openaire   +2 more sources

A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières syndrome type 5: a case report and literature review. [PDF]

Front Pediatr
Yousaf H, Zonash Z, Manzoor J, Ali A, Khalid LB, Zafar G, Ali S, Toft M, Fatima A, Iqbal Z.   +9 more
europepmc   +1 more source